Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121908539
rs121908539
GPHN
1 14 66508555 missense variant A/T snv 1.9E-04 1.5E-04 0.010 1.000 1 2003 2003
dbSNP: rs143918578
rs143918578
SLC6A5
1 11 20652332 missense variant A/G snv 2.4E-03 4.5E-04 0.010 1.000 1 2012 2012
dbSNP: rs745539706
rs745539706
SLC6A5
2 1.000 11 20626733 missense variant C/T snv 8.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs121908493
rs121908493
SLC6A5
2 1.000 11 20617755 stop gained C/A snv 8.0E-06 3.5E-05 0.700 0
dbSNP: rs121908494
rs121908494
SLC6A5
2 1.000 11 20628056 missense variant A/G snv 1.2E-05 3.5E-05 0.700 0
dbSNP: rs121908495
rs121908495
SLC6A5
2 1.000 11 20638477 stop gained C/T snv 4.0E-06 0.700 0
dbSNP: rs121908496
rs121908496
SLC6A5
2 1.000 11 20607583 missense variant C/G snv 0.700 0
dbSNP: rs121908497
rs121908497
SLC6A5
2 1.000 11 20630717 missense variant A/G snv 4.0E-06 0.700 0
dbSNP: rs121908498
rs121908498
SLC6A5
2 1.000 11 20626721 missense variant C/A;T snv 8.0E-06; 3.6E-05 0.700 0
dbSNP: rs281864923
rs281864923
SLC6A5
1 11 20601444 frameshift variant C/- delins 0.700 0
dbSNP: rs281864924
rs281864924
SLC6A5
2 1.000 11 20626741 frameshift variant G/TT delins 0.700 0
dbSNP: rs281864925
rs281864925
SLC6A5
1 11 20628028 missense variant T/C snv 0.700 0
dbSNP: rs281864926
rs281864926
SLC6A5
2 1.000 11 20630721 missense variant T/G snv 4.0E-06 0.700 0
dbSNP: rs730882208
rs730882208
CTSD
1 11 1753572 protein altering variant -/TGAAGACGTCGCCCA delins 0.700 0
dbSNP: rs121918413
rs121918413
GLRA1 ; LOC112267935
3 1.000 0.120 5 151851470 missense variant G/T snv 0.730 1.000 3 1999 2004
dbSNP: rs1467252662
rs1467252662
GLRA1 ; LOC112267935
2 5 151851530 missense variant G/T snv 4.0E-06 0.030 1.000 3 1999 2004
dbSNP: rs202247813
rs202247813
GLRA1 ; LOC112267935
2 1.000 0.160 5 151855144 missense variant C/G snv 0.030 1.000 3 2012 2016
dbSNP: rs121918408
rs121918408
GLRA1 ; LOC112267935
2 1.000 0.120 5 151851406 missense variant C/A;T snv 0.720 1.000 2 1995 2006
dbSNP: rs121918410
rs121918410
GLRA1
2 1.000 0.120 5 151829060 missense variant T/C;G snv 4.0E-06 0.710 1.000 1 2002 2002
dbSNP: rs121918412
rs121918412
GLRA1 ; LOC112267935
2 1.000 0.120 5 151851392 missense variant T/C snv 0.710 1.000 1 1996 1996
dbSNP: rs121918416
rs121918416
GLRA1 ; LOC112267935
4 0.882 0.160 5 151851440 missense variant C/T snv 0.710 1.000 1 2016 2016
dbSNP: rs121918417
rs121918417
GLRA1 ; LOC112267935
2 1.000 0.120 5 151851525 missense variant G/C snv 0.710 1.000 1 2002 2002
dbSNP: rs200130685
rs200130685
GLRA1
1 5 151822698 missense variant C/T snv 6.4E-05 5.6E-05 0.010 1.000 1 2016 2016
dbSNP: rs267606848
rs267606848
GLRA1 ; LOC112267935
2 1.000 0.120 5 151851418 missense variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs281864914
rs281864914
GLRA1 ; LOC112267935
1 5 151859962 missense variant C/T snv 8.0E-06; 8.0E-06 7.0E-06 0.010 1.000 1 2005 2005